Canonical Allele Identifier: CA532279789
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.44253811G>T , CM000664.2:g.44253811G>T GRCh38
NC_000002.11:g.44480950G>T , CM000664.1:g.44480950G>T GRCh37
NC_000002.10:g.44334454G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649044.1:c.1135-21693G>T ENSP00000497083.1:n.1135-21693G>T